Benign enlargement of the subarachnoid space with transient intracranial hypertension in Marfan syndrome carrying a novel FBN1 variant

Abstract Here we report a mother–son pair with Marfan syndrome carrying a novel FBN1 frameshift variant, which was classified as likely pathogenic. The boy developed benign enlargement of the subarachnoid space, accompanied by subdural hemorrhage and transient intracranial hypertension, and mild motor developmental delay. This case suggests a possible association between connective tissue disorders such as Marfan syndrome and complications occurring in infants with benign enlargement of the subarachnoid space.